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https://www.readbyqxmd.com/read/29159838/eys-mutation-update-in-silico-assessment-of-271-reported-and-26-novel-variants-in-patients-with-retinitis-pigmentosa
#1
Muriël Messchaert, Lonneke Haer-Wigman, Muhammad I Khan, Frans P M Cremers, Rob W J Collin
Mutations in Eyes shut homolog (EYS) are one of the most common causes of autosomal recessive (ar) retinitis pigmentosa (RP), a progressive blinding disorder. The exact function of the EYS protein and the pathogenic mechanisms underlying EYS-associated RP are still poorly understood, which hampers the interpretation of the causality of many EYS variants discovered to date. We collected all reported EYS variants present in 377 arRP index cases published before June 2017, and uploaded them in the Leiden Open Variation Database (www...
November 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/29159792/seom-clinical-guidelines-for-the-treatment-of-head-and-neck-cancer-2017
#2
L C Iglesias Docampo, V Arrazubi Arrula, N Baste Rotllan, A Carral Maseda, B Cirauqui Cirauqui, Y Escobar, J J Lambea Sorrosal, M Pastor Borgoñón, A Rueda, J J Cruz Hernández
Head and neck cancer (HNC) is defined as malignant tumours located in the upper aerodigestive tract and represents 5% of oncologic cases in adults in Spain. More than 90% of these tumours have squamous histology. In an effort to incorporate evidence obtained since 2013 publication, Spanish Society of Medical Oncology (SEOM) presents an update of HNC diagnosis and treatment guideline. The eighth edition of TNM classification, published in January 2017, introduces important changes for p16-positive oropharyngeal tumours, for lip and oral cavity cancer and for N3 category...
November 20, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29158769/physicians-duty-to-recontact-and-update-genetic-advice
#3
Yvonne A Stevens, Grant D Senner, Gary E Marchant
This perspective addresses whether physicians have a duty to recontact former or current patients to update clinical advice based on newly discovered genomic information. Genetic information is unique compared with other medical data in that the underlying data do not appreciably change during the patients' lifetime, but the clinical significance of that information will continue to evolve. Based on relevant case law and guidelines, there is no general, established legal duty for physicians to affirmatively recontact former or current patients to update clinical advice based on newly discovered genetic information...
2017: Personalized Medicine
https://www.readbyqxmd.com/read/29156687/distribution-of-lymph-node-metastasis-from-lymphoepithelial-like-carcinoma-of-the-parotid
#4
LiNa Yin, Xue Huang, XiaoLan Liu, YongChun Zhang, Xiaoshen Wang
Purpose: To explore the distribution of node spread from lymphoepithelial-like carcinoma (LELC) of the parotid gland based on the 2013 updated guidelines for neck node levels. Results: 42 (58.3%) cases had metastatic nodes, all were localized at the ipsilateral neck. The detailed distribution was: level Ia 0, level Ib 6(14.3%), level II 34 (80.1%), level III 16 (38.1%), level IV 9 (21.4%), level V 7 (16.7%), level VI 0, level VII 0, level VIII 37 (88.1%), level IX 0, level Xa 2 (4...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156452/an-international-consortium-update-pathophysiology-diagnosis-and-treatment-of-polycystic-ovarian-syndrome-in-adolescence
#5
Lourdes Ibáñez, Sharon E Oberfield, Selma F Witchel, Richard J Auchus, R Jeffrey Chang, Ethel Codner, Preeti Dabadghao, Feyza Darendeliler, Nancy Samir Elbarbary, Alessandra Gambineri, Cecilia Garcia Rudaz, Kathleen M Hoeger, Abel López-Bermejo, Ken Ong, Alexia S Peña, Thomas Reinehr, Nicola Santoro, Manuel Tena-Sempere, Rachel Tao, Bulent O Yildiz, Haya Alkhayyat, Asma Deeb, Dipesalema Joel, Reiko Horikawa, Francis de Zegher, Peter A Lee
This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under the International Consortium of Paediatric Endocrinology (ICPE) aiming to improve worldwide care of adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology and guidelines for the diagnosis and management of PCOS during adolescence. The complex pathophysiology of PCOS involves the interaction of genetic and epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations, and endocrine and metabolic modifiers such as anti-Müllerian hormone, hyperinsulinemia, insulin resistance, adiposity, and adiponectin levels...
November 13, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29154240/polish-consensus-on-treatment-of-gastric-cancer-update-2017
#6
Jan Kulig, Grzegorz Wallner, Michał Drews, Mariusz Frączek, Arkadiusz Jeziorski, Wojciech Kielan, Piotr Kołodziejczyk, Anna Nasierowska-Guttmejer, Teresa Starzyńska, Krzysztof Zinkiewicz, Marek Wojtukiewicz, W Tomasz Skoczylas, Piotr Richter, Marek Krawczyk
The "Polish Research on Gastric Cancer" project has been continued since 1986. The main aim of this project, which is a multicenter and interdisciplinary research, is enhancing the treatment results of gastric cancer patients by developing and promoting the use of optimal methods for diagnosis and treatment, both surgical as well as combined. One of the more important achievements of the project is the development and publication of a document named "Polish Consensus on Treatment of Patients with Gastric Cancer", whose first version was published in 1998...
October 31, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/29154042/oncological-outcomes-of-laparoscopic-nephroureterectomy-versus-open-radical-nephroureterectomy-for-upper-tract-urothelial-carcinoma-an-european-association-of-urology-guidelines-systematic-review
#7
REVIEW
Benoit Peyronnet, Thomas Seisen, Jose-Luis Dominguez-Escrig, Harman Max Bruins, Cathy Yuhong Yuan, Thomas Lam, Steven Maclennan, James N'dow, Marko Babjuk, Eva Comperat, Richard Zigeuner, Richard J Sylvester, Maximilian Burger, Hugh Mostafid, Bas W G van Rhijn, Paolo Gontero, Joan Palou, Sharokh F Shariat, Morgan Roupret
CONTEXT: Most series have suggested better perioperative outcomes of laparoscopic radical nephroureterectomy (RNU) over open RNU. However, the oncological safety of laparoscopic RNU remains controversial. OBJECTIVE: To systematically review all relevant literature comparing oncological outcomes of open versus laparoscopic RNU. EVIDENCE ACQUISITION: A systematic literature search using the Medline, Embase, and Cochrane databases and clinicaltrial...
November 15, 2017: European Urology Focus
https://www.readbyqxmd.com/read/29153145/ketteler-m-block-ga-evenepoel-p-et%C3%A2-al-executive-summary-of-the-2017-kdigo-chronic-kidney-disease-mineral-and-bone-disorder-ckd-mbd-guideline-update-what-s-changed-and-why-it-matters-kidney%C3%A2-int-2017-92-26-36
#8
https://www.readbyqxmd.com/read/29152729/clinical-pharmacogenetics-implementation-consortium-cpic-guideline-for-dihydropyrimidine-dehydrogenase-genotype-and-fluoropyrimidine-dosing-2017-update
#9
Ursula Amstutz, Linda M Henricks, Steven M Offer, Julia Barbarino, Jan H M Schellens, Jesse J Swen, Teri E Klein, Howard L McLeod, Kelly E Caudle, Robert B Diasio, Matthias Schwab
The purpose of this guideline is to provide information for the interpretation of clinical dihydropyrimidine dehydrogenase (DPYD) genotype tests so that the results can be used to guide dosing of fluoropyrimidines (5-fluorouracil and capecitabine). Detailed guidelines for the use of fluoropyrimidines, their clinical pharmacology, as well as analyses of cost-effectiveness are beyond the scope of this document. The Clinical Pharmacogenetics Implementation Consortium (CPIC(®) ) guidelines consider the situation of patients for which genotype data are already available (updates available at https://cpicpgx...
November 20, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29151815/how-should-we-evaluate-research-on-counselling-and-the-treatment-of-depression-a-case-study-on-how-the-national-institute-for-health-and-care-excellence-s-draft-2018-guideline-for-depression-considered-what-counts-as-best-evidence
#10
Michael Barkham, Naomi P Moller, Joanne Pybis
Background: Health guidelines are developed to improve patient care by ensuring the most recent and 'best available evidence' is used to guide treatment recommendations. The National Institute for Health and Care Excellence's (NICE's ) guideline development methodology acknowledges that evidence needed to answer one question (treatment efficacy) may be different from evidence needed to answer another (cost-effectiveness, treatment acceptability to patients). This review uses counselling in the treatment of depression as a case study, and interrogates the constructs of 'best' evidence and 'best' guideline methodologies...
December 2017: Couns Psychother Res
https://www.readbyqxmd.com/read/29149934/common-sense-approach-to-managing-sepsis
#11
REVIEW
Anders Perner, Lars B Holst, Nicolai Haase, Peter B Hjortrup, Morten H Møller
Sepsis results in many deaths, prolonged suffering among survivors and relatives, and high use of resources both in developed and developing countries. The updated Surviving Sepsis Campaign guidelines should aid clinicians in improving the identification and management of these patients, but many uncertainties remain because most of the guidance is based on low-quality evidence. This article discusses how to use some of the specific items of the guidelines together with a common-sense approach to aid clinical management of patients with sepsis while trying to balance the potential benefit and harm of the items...
January 2018: Critical Care Clinics
https://www.readbyqxmd.com/read/29149901/development-and-exploration-of-the-content-validity-of-a-patient-reported-outcome-measure-to-evaluate-the-impact-of-migraine-the-migraine-physical-function-impact-diary-mpfid
#12
Asha Hareendran, Sally Mannix, Anne Skalicky, Martha Bayliss, Andrew Blumenfeld, Dawn C Buse, Pooja R Desai, Brian G Ortmeier, Sandhya Sapra
BACKGROUND: Adults with migraine experience substantial reductions in quality of life during and in-between migraine attacks. Clinical and regulatory guidelines encourage the inclusion of patient reported outcomes for the evaluation of benefits of interventions for migraine. METHODS: The conceptual framework and items for a new patient-reported outcome (PRO) instrument, the Migraine Physical Function Impact Diary (MPFID), were developed using scientific methods recommended to ensure content validity of PRO instruments...
November 17, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29149621/the-risk-factors-related-to-bruxism-in-children-a-systematic-review-and-meta-analysis
#13
REVIEW
Huaqi Guo, Tongxia Wang, Xiaohong Niu, Hui Wang, Weihan Yang, Jie Qiu, Lan Yang
OBJECTIVE: This systematic review was performed to determine the risk factors related to bruxism in children. DESIGN: This systematic review was conducted with reporting in agreement to the PRISMA statement and according to guidelines from the Cochrane Handbook for Systematic Reviews of Interventions. We conducted a systematic search of seven online databases, with the last search updated on 1st October 2016. The seven databases were Pubmed, Embase, Cochrane Library database, Web of Science, CNKI, CBM, and WF...
November 11, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29149505/an-international-continence-society-ics-report-on-the-terminology-for-adult-neurogenic-lower-urinary-tract-dysfunction-anlutd
#14
Jerzy B Gajewski, Brigitte Schurch, Rizwan Hamid, Márcio Averbeck, Ryuji Sakakibara, Enrico F Agrò, Tamara Dickinson, Christopher K Payne, Marcus J Drake, Bernie T Haylen
INTRODUCTION: The terminology for adult neurogenic lower urinary tract dysfunction (ANLUTD) should be defined and organized in a clinically based consensus Report. METHODS: This Report has been created by a Working Group under the auspices and guidelines of the International Continence Society (ICS) Standardization Steering Committee (SSC) assisted at intervals by external referees. All relevant definitions for ANLUTD were updated on the basis of research over the last 14 years...
November 17, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/29149393/challenges-in-minor-tbi-and-indications-for-head-ct-in-pediatric-tbi-an-update
#15
Navneet Singh, Ash Singhal
INTRODUCTION: Pediatric head trauma is one of the commonest presentations to emergency departments. Over 90% of such head injuries are considered mild, but still present risk acute clinical deterioration and longer term morbidity. Identifying which children are at risk of clinically important brain injuries remains challenging and much of the data on minor head injuries is based on the adult population. CHALLENGES IN PEDIATRICS: Children, however, are different, both anatomically and in terms of mechanism of injury, to adults and, even within the pediatric group, there are differences with age and stage of development...
October 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29148967/group-b-streptococcus-infections-caused-by-improper-sourcing-and-handling-of-fish-for-raw-consumption-singapore-2015-2016
#16
Man L Chau, Swaine L Chen, Min Yap, Sri H P Hartantyo, Paul K T Chiew, Charlene J Fernandez, Wai K Wong, Rockey K Fong, Wei L Tan, Brian Z Y Tan, Youming Ng, Kyaw T Aung, Kurosh S Mehershahi, Christopher Goh, Joanne S L Kang, Timothy Barkham, Adeline O K Leong, Ramona A Gutiérrez, Lee C Ng
We assessed microbial safety and quality of raw fish sold in Singapore during 2015-2016 to complement epidemiologic findings for an outbreak of infection with group B Streptococcus serotype III sequence type (ST) 283 associated with raw fish consumption. Fish-associated group B Streptococcus ST283 strains included strains nearly identical (0-2 single-nucleotide polymorphisms) with the human outbreak strain, as well as strains in another distinct ST283 clade (57-71 single-nucleotide polymorphisms). Our investigations highlight the risk for contamination of freshwater fish (which are handled and distributed separately from saltwater fish sold as sashimi) and the need for improved hygienic handling of all fish for raw consumption...
December 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29148838/discordance-between-age-and-size-based-criteria-of-child-passenger-restraint-appropriateness
#17
Mary L Smiley, C Raymond Bingham, Peter D Jacobson, Michelle L Macy
Objectives In this study we sought to accomplish the following objectives: 1) to calculate the percentage of children considered appropriately restrained across eight criteria of increasing restrictiveness; 2) to examine agreement between age- and size-based appropriateness criteria; 3) to assess for changes in the percentage of children considered appropriately restrained by the eight criteria between 2011 (shortly after updates to United States (U.S.) guidelines) and 2015. Methods Data from two cross-sectional surveys of 928 parents of children younger than 12 years old (n = 591 in 2011, n = 337 in 2015) were analyzed in 2017...
November 17, 2017: Traffic Injury Prevention
https://www.readbyqxmd.com/read/29148110/stress-and-ways-of-coping-among-nurse-managers-an-integrative-review
#18
REVIEW
Leodoro J Labrague, Denise M McEnroe-Petitte, Michael Leocadio, Peter Van Bogaert, Greta G Cummings
AIMS AND OBJECTIVES: To appraise and synthesize empirical studies examining sources of occupational stress and ways of coping utilized by Nurse Managers (NMs) when dealing with stress. BACKGROUND: The Nurse Manager's role is challenging yet draining and stressful and has adverse consequences on an individual's overall health and well -being, patients' outcomes, and organizational productivity. Considerable research has been done; however, an updated and broader perspective on this critical organizational issue has not been performed...
November 17, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29147432/the-era-of-multigene-panels-comes-the-clinical-utility-of-oncotype-dx-and-mammaprint
#19
REVIEW
Ling Xin, Yin-Hua Liu, Tracey A Martin, Wen G Jiang
The AJCC Cancer Staging Manual, eighth edition published in late 2016, will become the new global guideline for cancer diagnosis and treatment from January 1, 2018. The new edition for the tumor staging system has numerous updates, including building up the prognostic stage group of tumors for the first time and adding a large number of non-anatomical factors into the prognostic evaluation. Oncotype DX and MammaPrint are two of the genomic predictors that will be part of routine clinical practice in the future...
April 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/29145936/biosimilars-state-of-clinical-and-regulatory-science
#20
Agnes Victoria Klein, Jian Wang, Brian G Feagan, Mark Omoto
On May 12, 2017, various issues and challenges associated with biologics were discussed during a session of the annual joint conference of Canadian Society for Pharmaceutical Sciences and Canadian Chapter of Controlled Release Society at Hyatt Regency Hotel, Montréal, QC, Canada.  An update on the Canadian regulatory guidelines for biosimilars was given, followed by viewpoints expressed by regulatory, academic and industry scientists.  Topics of discussion included: reference biologic drug, clinical considerations, immunogenicity, extrapolation and clarification of terminology, product monograph, international collaboration, switching and interchangeability, naming conventions, clinical and non-clinical evaluation, authorization of indications, statistical equivalence, the nor-switch study and biologics marketplace...
2017: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
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